Gene Symbol | POMGNT1 |
Entrez Gene ID | 55624 |
Full Name | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
Synonyms | GNTI.2,GnT I.2,LGMD2O,MEB,MGAT1.2,RP76,gnT-I.2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3); Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3); Retinitis pigmentosa 76, 617123 (3) |